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2,205 Possible Causes for High Peaks of Upper Lip Vermilion Border, Hypertelorism, Relative Macrocephaly in Childhood

  • Legius Syndrome

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[ncbi.nlm.nih.gov] Individuals with Legius syndrome typically have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism[diseaseinfosearch.org] Other features of LEOPARD syndrome are electrocardiography conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retarded growth, and sensorineural[ijpd.in]

  • Noonan Syndrome

    Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov] Eyelid abnormalities such as ocular hypertelorism and blepharoptosis are the most commonly observed eye complications.[ncbi.nlm.nih.gov] Noonan: Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.[whonamedit.com]

    Missing: Relative Macrocephaly in Childhood
  • Gorlin Syndrome

    […] with NBCCS childhood medulloblastoma macrocephaly (occipital frontal circumference 97th centile) cleft lip/palate vertebral/rib anomalies preaxial or postaxial polydactyly[invitae.com] Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding[ncbi.nlm.nih.gov] Physical findings include "coarse face" in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Neurofibromatosis Type 1

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] […] frequent than in NF1) Multiple café-au-lait spots (an autosomal dominant trait without other features of neurofibromatosis) LEOPARD syndrome (multiple lentigines, ocular hypertelorism[en.wikibooks.org] NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.[genome.ucsc.edu]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Gorlin-Chaudhry-Moss Syndrome

    […] with high and wide peaks to the vermilion border of upper lip, small chin and short neck.[vivavoceoralmedicineradiology.com] […] vaulted, narrow palate, cleft soft palate), ear (hypoplastic lobe and deafness), and skull (midface hypoplasia, brachycephaly, premature synostosis of the coronal sutures, hypertelorism[accessanesthesiology.mhmedical.com] […] and symptoms related to Gorlin-chaudhry-moss Syndrome Global developmental delay Short stature Generalized hypotonia Hearing impairment Microcephaly Scoliosis Growth delay Hypertelorism[mendelian.co]

    Missing: Relative Macrocephaly in Childhood
  • Multiple Congenital Anomalies

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] Here we report on a late preterm infant with multiple, nonsyndromic, congenital anomalies including microtia/anotia, cleft lip and palate, micrognathia, ocular hypertelorism[ncbi.nlm.nih.gov] […] present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Aarskog Syndrome

    As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] Ophthalmic findings include a slight downward slant to the palpebral fissures, hypertelorism, blepharoptosis, strabismus, ophthalmoplegia, hypermetropic astigmatism and a[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Coffin-Lowry Syndrome

    A 6 year-old, and a 3 year-old boy both had distinct clinical features of Coffin-Lowry syndrome; severe mental and motor retardation, microcephaly, prominent forehead, hypertelorism[ncbi.nlm.nih.gov] Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism[ncbi.nlm.nih.gov] The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips.[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Mandibulofacial Dysostosis

    The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[ncbi.nlm.nih.gov] Convert to ICD-10-CM : 756.0 converts approximately to: 2015/16 ICD-10-CM Q75.0 Craniosynostosis Or: 2015/16 ICD-10-CM Q75.2 Hypertelorism Or: 2015/16 ICD-10-CM Q75.9 Congenital[icd9data.com] Other abnormalities ( cleft palate, colobomas of the upper lid, hypertelorism and mental retardation ) are infrequent.[patient.info]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Saethre-Chotzen Syndrome

    Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[ncbi.nlm.nih.gov] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com] Thick eyebrows, prominent eyelashes, mild convergent strabismus and marginal hypertelorism were present.[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood

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